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PubMed1989

[Growth and bone maturity during congenital hypothyroidism screened in the neonatal period. Apropos of 82 cases].

Systematic neonatal screening of congenital hypothyroidism (CH) allowed to detect 82 children (62 girls and 20 boys) including 73% with ectopic thyroid, 18% with athyreosis and 9% with eutopic thyroid. They were followed for 1 to 7 years according to the same protocol. Skeletal maturity was studied according to 2 methods: TW2 and Sempé's numerical. Height growth was compared to the standards for French children. T4 values were normal at all ages, TSH values were slightly higher than standard. Concerning the skeletal maturity the delay observed in boys lessened from age 6 years (TW2 method: less than 25th percentile until 3 years, = 25th from 3 to 5 years, between P25 and P50 by 7 years of age). This delay was less important in children who, at the time of diagnosis (day 15) had an epiphyseal surface greater than or equal to 5 mm2. In girls, it was always above the 25th percentile. The expression of the delay was greater with Sempé's method than with the TW2 method. Thus, early substitutive treatment of CH allows a normal height growth. The skeletal maturity is somewhat abnormal in boys. This could be explained by the high percentage (66.6%) of boys with a small epiphyseal surface during the neonatal period and by a slight under-treatment.

Body Height↗
PubMed2006

Neonatal haemoglobinopathy screening: review of a 10-year programme in Brussels.

Since 1994, a neonatal screening programme for major haemoglobinopathies has been conducted in Brussels. We performed a 10-year re-evaluation of the incidence of haemoglobinopathies in Brussels and found that of the 118,366 newborns screened, 64 were diagnosed with a sickle cell syndrome, six had beta-thalassaemia major, four had a haemoglobin C disease and three had a haemoglobin H disease. Of the 64 babies with a sickle cell disease, two died before the age of two years and two did not present at the first neonatal visit. Of the six babies suffering from beta-thalassaemia major, all are alive and two have undergone a haematopoietic stem cell transplantation. The universal neonatal screening programme for haemoglobinopathies should be maintained in Brussels.

Anemia, Sickle Cell↗
PubMed2000

Evaluation of neonatal sepsis screening in a tropical area. Part I: Major risk factors for bacterial carriage at birth in Guadeloupe.

This prospective study reports on screening for neonatal sepsis among 3,372 live births out of 6,060 consecutive deliveries at the University Hospital of Pointe-à-Pitre, Guadeloupe, during a 30-month period. Group B Streptococcus (GBS) was the most common pathogen, representing 46% (89/194) of positive blood cultures and 52% (335/637) of positive gastric aspirates. Although only 3,372 (55%) of all live births were screened, 637 (10%) had gastric bacterial carriage at birth; of those, 335 (5.5%) involved GBS. Similarly, there were 194 (3.2%) positive blood cultures, of which 89 (1.5%) involved GBS. In this report, all newborns who presented with a positive GBS blood culture had at least one of the external tests positive for GBS (gastric, ear canal, rectum and placenta). Thirty-seven per cent (14/38) of positive neonatal blood cultures occurred in newborns with foetid liquor while in deliveries with intrapartum fever 16.5% (32/195) of blood cultures were positive. In our clinical practice, characteristics that were evident in the delivery room (without knowledge of prenatal follow-up) such as foetid liquor, intrapartum fever, prolonged rupture of membranes, foetal tachycardia and meconium staining were associated with the great majority of neonatal sepsis.

Guadeloupe↗
PubMed1997

Molecular basis of nonclassical steroid 21-hydroxylase deficiency detected by neonatal mass screening in Japan.

Since 1989, neonatal mass screening for congenital adrenal hyperplasia (CAH) has been performed in Japan, and the frequency of the classical form of 21-hydroxylase deficiency was found to be nearly identical to that in other countries. However, it has not yet been determined whether our mass screening program can detect the nonclassical (NC) form. From 1991 to 1994, about 4,500,000 infants underwent CAH mass screening in Japan. During this period, we identified by screening 2 siblings and 2 unrelated patients who had mild elevation of serum 17-hydroxyprogesterone levels at 5 days of age, but who revealed no symptoms of CAH. They were diagnosed as having probable NC steroid 21-hydroxylase deficiency. To clarify the molecular basis of NC CAH detectable by neonatal screening in Japan, the steroid 21-hydroxylase (CYP21) genes from these cases were analyzed. The 2 siblings (patients 1 and 2) had I172N and R356W mutations in 1 allele and in the other allele had local gene conversion, including the P30L mutation in exon 1. Patient 3, who was unrelated, had gene conversion encoding the same P30L mutation in 1 allele and in the other allele had an intron 2 mutation (668-12 A-->G), causing aberrant ribonucleic acid splicing, and the R356W mutation. Patient 4, also a compound heterozygote, had the R356W and 707del8 mutations. The estimated rate of detection of the NC form by mass screening (1:1,100,000) seemed low compare to the established detection rate for the classical form (1:18,000). As all of our 4 patients were compound heterozygotes with at least 1 allele bearing 1 or more mutations associated with classic CAH, it may be difficult to detect NC cases carrying only NC-associated alleles using our current neonatal mass screening methods.

17-alpha-Hydroxyprogesterone↗
PubMed1990

[Early diagnosis of cystic fibrosis: to screen or not to screen?].

After an experimental neonatal screening program for cystic fibrosis (CF) had been carried out in the Netherlands during 1973-1979, a follow-up study to evaluate the effects of neonatal screening was started in 1980. The results of this study suggest that early diagnosis and appropriate treatment may prevent serious deterioration and death at a young age, and may reduce the extent of early irreversible lung damage in patients with CF. The short period between the birth of an affected child and the diagnosis and the timely information on the high recurrence risk, may lead to a significant reduction in subsequent births in the case of neonatal screening. However it is still doubtful whether general neonatal screening for CF should be recommended, as treatment directed against the harmful effects of the genetic defect is not yet available.

Child↗
PubMed1997

Field sensitivity of targeted neonatal hearing screening by transient-evoked otoacoustic emissions.

OBJECTIVE: Population ascertainment of children having bilateral moderate to profound hearing impairment was undertaken to find out how many had passed (false negatives) and how many had failed (true negatives) a neonatal screening test based on transient-evoked otoacoustic emissions (TEOAE). DESIGN: Neonatal screening using a purpose-built TEOAE instrument was undertaken in neonates, at eight hospitals in districts distributed around the United Kingdom starting in 1988. Screening was targeted on neonates at risk of hearing impairment. A total of 7500 babies had been tested by the end of 1995. Searching of audiological records in the districts completed at the end of 1995 ascertained 218 children born between January 1988 and December 1993 who had hearing threshold levels in both ears of 50 dB or more, averaged over the speech frequencies 0.5, 1, 2, and 4 kHz. Of those, 47 had completed the neonatal TEOAE screening test. Retrospective examination of their TEOAE records indicated whether they had passed or failed the screening test. RESULTS: Eleven of the 47 had passed the screening test, although two of those had documented acquired hearing impairment occurring after screening. Disregarding those two cases leaves nine false negatives out of 45, giving a sensitivity estimate of 80% (36 divided by 45). In two of the nine cases, there was documented evidence of progression, one of whom had a family history of progressive hearing loss. CONCLUSIONS: Targeted neonatal hearing screening programs based on TEOAE can expect to identify hearing impairment in approximately 80% of babies screened. The cause of false negatives is a matter for conjecture. There may be several reasons: the test may give an incorrect result, there may be a later acquired hearing impairment, or there may be a progressive hearing loss of unknown origin. Passing a neonatal screening test is not a valid reason to forego further surveillance, or to disregard parental suspicion of hearing impairment.

Acoustic Stimulation↗
PubMed2003

Population screening for neonatal liver disease: potential for a community-based programme.

OBJECTIVES: To evaluate a community-based screening programme for detecting neonatal liver disease by the quantitation of conjugated bilirubin in blood. SETTINGS AND METHODS: Prospective cohort/observational study using spare plasma from routinely collected liquid neonatal screening specimens from babies born in Birmingham over a two-year period. Babies with a conjugated bilirubin above 18 mumol/l and comprising more than 20% of the total bilirubin were followed up. A total of 27654 neonates were tested in the community, with a further 2425 samples from babies hospitalised at the time of the test. RESULTS: In the community-based series, 84.7% of the specimens received were analysed, the remainder being unusable mainly because of gross haemolysis (8.6%) or insufficient sample (5.8%). In 107 neonates the results were above the cut-off limits (0.46% of the number analysed). Of these, 12 had persistently abnormal results, 11 of whom had confirmed liver disease. The liver diseases detected included neonatal hepatitis (n=6), extra-hepatic biliary atresia (n=2), hypopituitarism (n=1), alpha-1-antitrypsin deficiency (n=1) and Alagille syndrome (n=1). The sensitivity and specificity of the test for babies in the community were 100% and 99.6%, respectively. CONCLUSIONS: Conjugated bilirubin in plasma measured at 6-10 days is a reliable marker for neonatal liver disease, and a population screening programme based on this method has the potential to improve the survival and quality of life of infants born with liver disease. However, testing as part of the neonatal screening programme will prove practical only if the method can be adapted to use dried blood spots.

Bilirubin↗
PubMed1997

Population screening for the common G985 mutation causing medium-chain acyl-CoA dehydrogenase deficiency with Eu-labeled oligonucleotides and the DELFIA system.

We have screened 10171 neonatal blood spots from the Trent and West Midlands regions of the UK for the common G985 mutation to more accurately establish the incidence of medium-chain acyl coenzyme (Co)A dehydrogenase (MCAD) deficiency. We have used a technique involving PCR and Eu-labeled allele-specific oligonucleotides detected by using time-resolved fluorometry on the dissociation-enhanced fluorescence immunoassay (DELFIA) system for the detection of the G985 mutation. We have also evaluated the feasibility of neonatal screening with this technique. We identified 158 G985 heterozygotes and no G985 homozygotes. The calculated incidence of MCAD deficiency in the population studied (all mutations, assuming 90% of MCAD mutations are G985) is 1 in 13426 (95% confidence limits 1 in 10070-1 in 18791). At the optimum cutoff criteria, the technique has a sensitivity of 97.5%, specificity of 99.6%, and positive predictive value of 80.2%. We conclude that this study confirms that MCAD deficiency is a common inherited metabolic disease and is a candidate for neonatal screening. The methodology used is robust and suitable for large-scale population studies such as this. The technique is also potentially suitable for screening.

Acyl-CoA Dehydrogenase↗
PubMed1999

Early clinical screening of neonates for congenital heart defects: the cases we miss.

In a population-based study of 35,218 infants born alive during the 15 years from 1982 to 1996, 353 (1%) were diagnosed as having a congenital heart defect, of whom 84 (24%) were diagnosed subsequent to discharge from hospital after birth (2.4/1000). Of these, 40 (48%) had a ventricular septal defect, 14 (17%) an atrial septal defect, 9 (11%) a patent arterial duct, 8 (10%) an aortic stenosis and 13 (15%) other defects. Compared with those in whom diagnosis was made before discharge, the group of patients with defects detected late had an increased prevalence of atrial septal defects, patent arterial duct and aortic stenosis, but less decreased prevalence of ventricular septal defects (p < 0.05). Median age at detection of the defects subsequent to discharge was 6 months (range 2 weeks-11 years). Seven patients (8%) presented with clinical symptoms of cardiac decompensation. The mortality rate was significantly lower in those in whom defects were detected late (1/84; 1%) as compared with those detected immediately after birth (37/269; 14%) (p < 0.05). The total rate for early detection was the same after using one clinical examination (8.2/1000) of newborns as our basic routine instead of two (7.1/1000) (p > 0.05). A substantial proportion of congenital cardiac malformations are detected after discharge from hospital after birth. Some patients with these lesions present with cardiac decompensation and are in need of medication and surgery. One clinical examination of newborns detects congenital malformations of the heart as efficient as two.

Cohort Studies↗
PubMed1994

Echocardiographic screening in neonates undergoing surgery for selected gastrointestinal malformations.

To compare echocardiography with clinical examination, radiography, and electrocardiography for the detection of congenital heart defects (CHD) a four year prospective study was carried out in 166 neonates with selected congenital gastrointestinal malformations (anorectal anomaly, tracheo-oesophageal fistula, duodenal atresia, exomphalos, and gastroschisis). Routine examination and investigation detected CHD in 16 neonates. Using echocardiography CHD was diagnosed in 38 (23%) neonates of whom five had two gastrointestinal malformations: in 22/57 (39%) with a tracheo-oesophageal fistula, 10/67 (15%) with an anorectal anomaly, 4/20 (20%) with exomphalos, 6/20 (30%) with duodenal atresia, and 1/7 with gastroschisis. A significantly higher incidence of CHD in neonates with gastrointestinal malformations was diagnosed using echocardiography (23%) compared with routine examination and investigation (9%). Early diagnosis of CHD allowed a unified approach to be presented to the family.

Abnormalities, Multiple↗
PubMed1986

Immunoradiometric assay with use of magnetizable particles: measurement of thyrotropin in blood spots, to screen for neonatal hypothyroidism.

We adapted a commercial immunoradiometric assay (IRMA) to measure thyrotropin in filter-paper blood spots. Two 3-mm blood spots are used for each standard and sample. These are incubated for 2 h with radiolabeled antibody and for 30 min with magnetic antibody, followed by a 10-min separation procedure. Assay sensitivity is 6 milli-int. units/L. Coefficients of variation (precision profile of the standard curve) ranged from 4.3 to 9.6%. The coefficient of correlation (r) between thyrotropin concentrations in the blood spots and in serum was 0.93. Pre-elution of the blood spots is necessary for short incubation time. Short incubation time, little need for specialized equipment, the high precision and sensitivity characteristic of IRMA, and ease of collection, transport, and storage of the blood-spot samples make this assay suitable for neonatal hypothyroid screening.

Humans↗